Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort

被引：40

作者：

Bowes, John ^{[1
]}

Ho, Pauline ^{[1
]}

Flynn, Edward ^{[1
]}

Ali, Faisal ^{[2
]}

Marzo-Ortega, Helena ^{[3
]}

Coates, Laura C.

Warren, Richard B. ^{[2
]}

McManus, Ross ^{[4
]}

Ryan, Anthony W. ^{[4
]}

Kane, David

Korendowych, Eleanor ^{[5
,6
]}

McHugh, Neil ^{[5
,6
]}

FitzGerald, Oliver ^{[7
]}

Packham, Jonathon ^{[8
]}

Morgan, Ann W.

Bruce, Ian N. ^{[1
]}

Barton, Anne ^{[1
]}

机构：

[1] Univ Manchester, Arthrit Res UK Epidemiol Unit, Manchester M13 9PT, Lancs, England

[2] Salford Royal NHS Fdn Trust, Manchester, Lancs, England

[3] Univ Leeds, Sect Musculoskeletal Dis, Leeds Inst Mol Med, Leeds, W Yorkshire, England

[4] Trinity Coll Dublin, Dept Clin Med, Dublin, Ireland

[5] Univ Bath, Royal Natl Hosp Rheumat Dis, Bath BA2 7AY, Avon, England

[6] Univ Bath, Dept Pharm & Pharmacol, Bath BA2 7AY, Avon, England

[7] St Vincents Univ Hosp, Dept Rheumatol, Dublin 4, Ireland

[8] Keele Univ, Arthritis Res Campaign Natl Primary Care Ctr, Keele, Staffs, England

来源：

ANNALS OF THE RHEUMATIC DISEASES | 2012年 / 71卷 / 08期

基金：

英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; SYSTEMIC-LUPUS-ERYTHEMATOSUS; RISK LOCUS; GENETIC-VARIANTS; CROHNS-DISEASE; 6Q23; POPULATION; PTPN22; POLYMORPHISMS; CONFIRMATION;

D O I：

10.1136/annrheumdis-2011-200802

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective A number of rheumatoid arthritis (RA) susceptibility genes have been identified in recent years. Given the overlap in phenotypic expression of synovial joint inflammation between RA and psoriatic arthritis (PsA), the authors explored whether RA susceptibility genes are also associated with PsA. Methods 56 single nucleotide polymorphisms (SNPs) mapping to 41 genes previously reported as RA susceptibility loci were selected for investigation. PsA was defined as an inflammatory arthritis associated with psoriasis and subjects were recruited from the UK and Ireland. Genotyping was performed using the Sequenom MassArray platform and frequencies compared with data derived from large UK control collections. Results Significant evidence for association with susceptibility to PsA was found to a SNP mapping to the REL (rs13017599, p(trend)=5.2x10(4)) gene, while nominal evidence for association (p(trend)<0.05) was found to seven other loci including PLCL2 (rs4535211, p=1.7x10(-3)); STAT4 (rs10181656, p=3.0x10(-3)) and the AFF3, CD28, CCL21, IL2 and KIF5A loci. Interestingly, three SNPs demonstrated opposite effects to those reported for RA. Conclusions The REL gene, a key modulator of the NF kappa B pathway, is associated with PsA but the allele conferring risk to RA is protective in PsA suggesting that there are fundamental differences in the aetiological mechanisms underlying these two types of inflammatory arthritis.

引用

页码：1350 / 1354

页数：5

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